rs1057516850, HEXA

N. diseases: 1
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
103 1.000 0.120 15 72353173 frameshift variant A/- delins 0.700 0